A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560068



Internal ID16347477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106247307..106248286hg38UCSC Ensembl
Innerchr12:106641085..106642064hg19UCSC Ensembl
Innerchr12:105165215..105166194hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38980
hg19980
hg18980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2845n54
Supporting Variantsnssv801865, nssv801867, nssv801866
Samples
Known GenesCKAP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560068
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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